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Article

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Clinical endocrinology - 1 Jan 2004

Christensen Jane H, Siggaard Charlotte, Corydon Thomas J, Robertson Gary L, Gregersen Niels, Bolund Lars, Rittig Søren

Abstract excerpt

OBJECTIVE AND STUDY DESIGN: Two different mutations in the arginine vasopressin (AVP) gene associated with autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) predict Y21H (AVP2) and V67A (NP36) amino acid substitutions of the AVP prohormone. They are unique in that they change, respectively, the AVP moiety and a region of the neurophysin II domain not so far affected by any mutations. To...

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Identifiers

PMID: 14678298
DOI: 10.1111/j.1365-2265.2004.01953.x

Genes

AVP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.PMID 14678298Read ↗

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